Gene Symbol | TMEM165 |
Entrez Gene ID | 55858 |
Full Name | transmembrane protein 165 |
Synonyms | CDG2K,FT27,GDT1,TMPT27,TPARL |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(Human) |
Genome | |
Summary | This gene encodes a predicted transmembrane protein with a perinuclear Golgi-like distribution in fibroblasts. Mutations in this gene are associated with the autosomal recessive disorder congenital disorder of glycosylation, type IIk. Knockdown of this gene's expression causes decreased sialylation in HEK cells and suggests this gene plays a role in terminal Golgi glycosylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]. |
Disorder MIM: | |
Disorder Html: | Congenital disorder of glycosylation, type IIk, 614727 (3) |